Evidence map›Paper›PMID 29178651›Full record

ArticleMolecular genetics & genomic medicine2017

Clinical verification of genetic results returned to research participants: findings from a Colon Cancer Family Registry.

Mercy Y Laurino, Anjali R Truitt, Lederle Tenney, Douglass Fisher, Noralane M Lindor, David Veenstra, Gail P Jarvik, Polly A Newcomb, Stephanie M Fullerton

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics & genomic medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Mercy Y LaurinoCancer Prevention Program, Seattle Cancer Care Alliance, Seattle, Washington, USA.ORCID 0000-0001-7152-5048
Anjali R TruittDepartment of Rehabilitation Medicine, University of Washington, Seattle, Washington, USA.
Lederle TenneyPublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.
Douglass FisherPublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.
Noralane M LindorDepartment of Health Sciences Research, Mayo Clinic, Scottsdale, Arizona, USA.
David VeenstraPharmaceutical Outcomes Research and Policy Program, School of Pharmacy, University of Washington, Seattle, Washington, USA.
Gail P JarvikDivision of Medical Genetics, Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
Polly A NewcombPublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.
Stephanie M FullertonDepartment of Bioethics and Humanities, University of Washington, Seattle, Washington, USA.

Funding

University of Washington Biomedical Informatics and Data Science Research Training ProgramT15LM007442 · NLM · UNIVERSITY OF WASHINGTON · PI JOHN H. GENNARI, Andrea L. Hartzler · 2002 to 2026
$19.6M
SEATTLE FAMILIAL COLORECTAL CANCER REGISTRYU01CA074794 · NCI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI NEWCOMB, POLLY A · 1997 to 2007
$14.1M
Variation, Function, and Disease Supplement ProgramU01HG008657 · NHGRI · UNIVERSITY OF WASHINGTON · PI David Russell Crosslin, Gail Pairitz Jarvik · 2015 to 2026
$13.4M
Colon Cancer Family Registry CohortUM1CA167551 · NCI · STANFORD UNIVERSITY · PI HAILE, ROBERT WILLIAM, JENKINS, MARK A · 2013 to 2017
$11.3M
Clinical sequencing in cancer: Clinical ethical and technological studiesU01HG006507 · NHGRI · UNIVERSITY OF WASHINGTON · PI JARVIK, GAIL PAIRITZ · 2012 to 2016
$10.6M
NRSA Training CoreTL1TR002318 · NCATS · UNIVERSITY OF WASHINGTON · PI Megan Moore · 2017 to 2026
$8.4M
The Colon Cancer Family Registry: SeattleU24CA074794 · NCI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI NEWCOMB, POLLY A · 2008 to 2011
$7.0M
Evolving Our Partnership: The CSER2 Centralized Support Coordinating CenterU24HG007307 · NHGRI · UNIVERSITY OF WASHINGTON · PI FULLERTON, STEPHANIE MALIA, JARVIK, GAIL PAIRITZ · 2017 to 2021
$5.8M
CSER RoRC Centralized Support Coordinating CenterU01HG007307 · NHGRI · UNIVERSITY OF WASHINGTON · PI BURKE, WYLIE G., JARVIK, GAIL PAIRITZ · 2013 to 2016
$3.6M
Institute of Translational Health SciencesTL1TR000422 · NCATS · UNIVERSITY OF WASHINGTON · PI DISIS, MARY L. · 2012 to 2016
$2.1M
Training and Research in Colon Cancer SurvivalK05CA152715 · NCI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI NEWCOMB, POLLY A · 2010 to 2019
$991k
SURVEILLANCE EPIDEMIOLOGY &END RESULTS PROGRAMN01CN067009 · CN · FRED HUTCHINSON CANCER RESEARCH CENTER · PI THOMAS, DAVID B · 1996 to 1997
–
NCATS NIH HHS TL1 TR000422NCATS NIH HHS TL1 TR002318NCI NIH HHS HHSN261201300012INCI NIH HHS K05 CA152715NCI NIH HHS N01 CN067009NCI NIH HHS N01 PC035142NCI NIH HHS U01 CA074794NCI NIH HHS U24 CA074794NCI NIH HHS UM1 CA167551NHGRI NIH HHS U01 HG006507NHGRI NIH HHS U01 HG007307NHGRI NIH HHS U01 HG008657NHGRI NIH HHS U24 HG007307NLM NIH HHS T15 LM007442
6 · The paper itself

Abstract

backgroundThe extent to which participants act to clinically verify research results is largely unknown. This study examined whether participants who received Lynch syndrome (LS)-related findings pursued researchers' recommendation to clinically verify results with testing performed by a CLIA-certified laboratory.

methodsThe Fred Hutchinson Cancer Research Center site of the multinational Colon Cancer Family Registry offered non-CLIA individual genetic research results to select registry participants (cases and their enrolled relatives) from 2011 to 2013. Participants who elected to receive results were counseled on the importance of verifying results at a CLIA-certified laboratory. Twenty-six (76.5%) of the 34 participants who received genetic results completed 2- and 12-month postdisclosure surveys; 42.3% of these (11/26) participated in a semistructured follow-up interview.

resultsWithin 12 months of result disclosure, only 4 (15.4%) of 26 participants reported having verified their results in a CLIA-certified laboratory; of these four cases, all research and clinical results were concordant. Reasons for pursuing clinical verification included acting on the recommendation of the research team and informing future clinical care. Those who did not verify results cited lack of insurance coverage and limited perceived personal benefit of clinical verification as reasons for inaction.

conclusionThese findings suggest researchers will need to address barriers to seeking clinical verification in order to ensure that the intended benefits of returning genetic research results are realized.

Indexed as

Genetic TestingAdultAgedColorectal Neoplasms, Hereditary NonpolyposisDNA-Binding ProteinsFamilyFemaleGenetic ResearchHumansInsurance CoverageLaboratoriesMaleMiddle AgedMismatch Repair Endonuclease PMS2MutL Protein Homolog 1MutS Homolog 2 ProteinDNA-Binding ProteinsMismatch Repair Endonuclease PMS2MLH1 protein, humanMSH2 protein, humanMsh6 protein, mouseMutL Protein Homolog 1MutS Homolog 2 ProteinPMS2 protein, humanCancer registryCLIA verificationgenetic researchLynch syndromereturn of research results

Identifiers

PMID29178651
PMCPMC5702564

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.